>
Martina,

You will find excellent basic information and further links at http://ghr.nlm.nih.gov/condition=pyruvatecarboxylasedeficiency

Nicole Bernshaw

> Date:    Thu, 27 Nov 2008 10:38:37 +0100
> From:    giadaeli <[log in to unmask]>
> Subject: Pyruvate Carboxylase Deficiency
>
> dear all,
> I need some info, if you have, about a very rare metabolic disease.
> Baby 4 months old, born at 6 months gestation and spent 3 months in
> hospital: When he was discharged the mother brought the baby to the  
> LLL
> Leader to check positioning. He looked healthy and the right size  
> for a
> newborn. He received formula for his first month in hospital and then
> his mother's expressed milk for the other two. Despite other, almost
> continuous hospital admissions the baby still receives mother's  
> milk. He
> continues to grow well but his lactic acid levels are very high,  
> higher
> than other babies who have died due to the problem. The doctors  
> continue
> to admit him to hospital when the lactic acid levels increase. The  
> last
> time he went into hospital the doctors stopped the breastmilk and
> started feeding him with a formula without lactose and some other  
> sugars
> in an attempt to lower the levels of lactic acid in the blood. The
> levels did not come down and in consultation with her doctor and a
> specialist in another town they have decided to start breastmilk  
> feeding
> once more and see if the levels rise. In case they rise again they are
> willing to stop the breastmilk. The mother would like information on  
> the
> illness and about breastfeeding in this situation
> many thanks
> Martina Carabetta, LLLL

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